MyMedR

Delayed diagnosis of Ewing's sarcoma in a young patient presented with left knee monoarthritis

Lim CH, Lim YH, Radzi M

BMJ Case Rep, 2020 Mar 19;13(3).

PMID: 32198224 DOI: 10.1136/bcr-2019-232193

A 19-year-old girl presented to the rheumatology clinic for left knee monoarthritis for the past 4 months. She also had constitutional symptoms with significant weight loss. On physical examination, she appeared cachexic, her left knee was swollen and tender. MRI of the left knee showed a soft tissue swelling extending into the knee joint. Left knee synovial fluid showed small round cells. Histopathology results were compatible with Ewing's sarcoma. Due to the delay in seeking medical advice, she succumbed to the disease 1 week after the diagnosis was made. Soft tissue/bone tumour causes monoarthritis is not common. A careful history taking, physical examination and investigations should be done in order to identify a sinister cause of monoarthritis such as Ewing's sarcoma. Early treatment should be initiated to ensure a better outcome.

Matched MeSH terms: Fatal Outcome

Fulltext Purpura Fulminans: A rare presentation of Streptococcus Pneumoniae infection

Teo HG, Wong JY, Ting TLL

BMJ Case Rep, 2017 Oct 20;2017.

PMID: 29054893 DOI: 10.1136/bcr-2017-221150

A previously healthy man presented with fever for 2 days and rapidly progressive purpuric rash for 1 day. He progressed into hypotension, disseminated intravascular coagulation and refractory shock despite resuscitation and early antibiotic commencement. Blood culture grew Streptococcus pneumoniae This case report highlights the fact that purpura fulminans can be a rare presentation of S. pneumoniae infection as well.

Matched MeSH terms: Fatal Outcome

Fulltext Metastatic melanoma: a rare cause of central airway obstruction

Abdul Hamid MF, Ban Yu-Lin A, Hassan TM, Mohammad N

BMJ Case Rep, 2017 Nov 04;2017.

PMID: 29103009 DOI: 10.1136/bcr-2017-221545

A middle-aged woman with recurrent malignant melanoma presented initially with massive left pleural effusion. There was a complete obliteration of the left main bronchus on flexible bronchoscopy caused by a mass. Serial cryo-debulking of the tumour was done under rigid bronchoscopy; however, the outcome was not favourable due to the aggressive tumour growth. Vemurafenib was planned after thoracic radiation. She was not keen for the biologics treatment due to financial constraints. We report a case of central airway obstruction due to recurrent aggressive melanoma. More evaluations are needed on the role of interventional pulmonologist for bronchoscopic debulking of this rapidly growing tumour as well as the role of biological agents in treating such cases.

Matched MeSH terms: Fatal Outcome

A fatal case of malignant neurocysticercosis

Ong SCL, Koh KC

BMJ Case Rep, 2017 Sep 27;2017.

PMID: 28954760 DOI: 10.1136/bcr-2017-222281

Matched MeSH terms: Fatal Outcome

Orbital multiple myeloma: a diagnostic challenge

Tai E, Sim SK, Haron J, Wan Hitam WH

BMJ Case Rep, 2017 Aug 07;2017.

PMID: 28790098 DOI: 10.1136/bcr-2017-220895

Orbital involvement in multiple myeloma is unusual. We describe the case of an 85-year-old woman who presented with right eye proptosis, reduced visual acuity and diplopia. Computed tomography showed a lobulated, enhancing soft tissue mass arising from the right greater wing of the sphenoid with intraconal, lacrimal gland and ocular muscle involvement. Histopathology revealed predominantly atypical plasma cells in a background of reactive lymphocytes, with monoclonality towards kappa light chain protein, suggestive of multiple myeloma. This case illustrates the diagnostic imaging challenge of orbital multiple myeloma.

Matched MeSH terms: Fatal Outcome

Fulltext Primary extraskeletal Ewing's sarcoma/primitive neuroectodermal tumour of breast

Ikhwan SM, Kenneth VK, Seoparjoo A, Zin AA

BMJ Case Rep, 2013 Jun 21;2013.

PMID: 23813511 DOI: 10.1136/bcr-2013-009584

Primary primitive neuroectodermal tumour (PNET) and extraskeletal Ewing's sarcoma belongs to the Ewing's family of tumours. Primary tumours arising from breast are very rare. There are only a few case reports published on primary extraskeletal Ewing's sarcoma and PNET arising from breast. We present an extremely rare case of an inoperable primary Ewing's sarcoma arising from left breast with contralateral breast, lymphatic and lung metastasis.

Matched MeSH terms: Fatal Outcome

Fulltext Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, et al.

Blood, 2020 Aug 27;136(9):1055-1066.

PMID: 32518946 DOI: 10.1182/blood.2020005844

Molecular dissection of inborn errors of immunity can help to elucidate the nonredundant functions of individual genes. We studied 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin. All 3 showed early autologous T-cell reconstitution following allogeneic hematopoietic stem cell transplantation. By whole-exome sequencing, we identified rare homozygous germline missense or nonsense variants in a known epigenetic regulator of gene expression: ten-eleven translocation methylcytosine dioxygenase 2 (TET2). Mutated TET2 protein was absent or enzymatically defective for 5-hydroxymethylating activity, resulting in whole-blood DNA hypermethylation. Circulating T cells showed an abnormal immunophenotype including expanded double-negative, but depleted follicular helper, T-cell compartments and impaired Fas-dependent apoptosis in 2 of 3 patients. Moreover, TET2-deficient B cells showed defective class-switch recombination. The hematopoietic potential of patient-derived induced pluripotent stem cells was skewed toward the myeloid lineage. These are the first reported cases of autosomal-recessive germline TET2 deficiency in humans, causing clinically significant immunodeficiency and an autoimmune lymphoproliferative syndrome with marked predisposition to lymphoma. This disease phenotype demonstrates the broad role of TET2 within the human immune system.

Matched MeSH terms: Fatal Outcome

Bilateral chylothorax in paediatric acute lymphoblastic leukaemia

Menon BS, Juraida E, Mahfuzah M, Hishamshah I

Br J Haematol, 2006 Feb;132(3):253.

PMID: 16409288

Matched MeSH terms: Fatal Outcome

Chromobacterium violaceum infection

Tee HP, Francis AL, How SH

Br J Hosp Med (Lond), 2006 Apr;67(4):208-9.

PMID: 16681318 DOI: 10.12968/hmed.2006.67.4.20869

Matched MeSH terms: Fatal Outcome

Outbreak of Hendra-like virus--Malaysia and Singapore, 1998-1999

Can. Commun. Dis. Rep., 1999 Jun 15;25(12):108-12.

PMID: 10390905

Matched MeSH terms: Fatal Outcome

Li-Fraumeni syndrome in a Malaysian kindred

Ariffin H, Martel-Planche G, Daud SS, Ibrahim K, Hainaut P

Cancer Genet. Cytogenet., 2008 Oct;186(1):49-53.

PMID: 18786442 DOI: 10.1016/j.cancergencyto.2008.06.004

We report on a Malaysian kindred with Li-Fraumeni syndrome. The proband was an 8-year-old girl who presented with embryonal rhabdomyosarcoma of the trunk at the age of 8 months and developed a brain recurrence at the age of 7 years, which was 5 years after remission. A younger sister later developed adrenocortical carcinoma at the age of 6 months. Their mother and maternal grandmother were diagnosed with breast cancer at the ages of 26 and 38 years, respectively. TP53 mutation detection in this family revealed a duplication of a GGCGTG motif starting at nucleotide 17579 in exon 10, resulting in an in-frame insertion of two amino acids between residues 334 and 336 in the tetramerization domain of the p53 protein. This mutation was found in the proband and her affected sister as well as her mother. In addition, the mutation was detected in two other siblings (a brother aged 3 years and a sister aged 18 months) who have not yet developed any malignancy. Sequencing of TP53 in the father and two other asymptomatic siblings revealed wild-type TP53. To our knowledge, this is a first report of a Li-Fraumeni syndrome family in Southeast Asia.

Matched MeSH terms: Fatal Outcome

Right atrial tuberculoma: a diagnosis too late

Ngow HA, Khairina WM

Cardiol J, 2011;18(5):560-3.

PMID: 21947994

Solitary intra-cardiac cavity tuberculoma is extremely rare and often only diagnosed during a post-mortem. We report a case of right atrial tuberculoma causing right atrial outflow tract obstruction in an immune-compromised man. The diagnosis of cardiac tuberculoma was made through the detection of mycobacterium tuberculosis DNA by tuberculosis-polymerase chain reaction in the pericardial fluid. The patient succumbed five days after admission but an autopsy was refused by his family.

Matched MeSH terms: Fatal Outcome

Right heterotaxy with Hirschsprung's disease - a new association

Thambi Dorai CR, Hamzaini H, Rohana R

Clin Anat, 2010 May;23(4):455-9.

PMID: 20196129 DOI: 10.1002/ca.20949

A baby girl with prenatal diagnosis of complex cardiac anomalies and diaphragmatic hernia was born at 36 weeks of gestation. At 4 hr of life, the baby developed respiratory distress and was intubated. She was found to have right hetetrotaxy with total anomalous pulmonary venous drainage into the portal vein, five hepatic veins draining the liver and intrathoracic herniation of the stomach. The child also developed abdominal distension on the second day of life with passage of scanty meconium. The diagnosis of Hirschsprung's disease (HD) was confirmed by histology. HD in association with right heterotaxy has not been reported earlier. The association of heterotaxy with HD in our patient raises a possible genetic link between the two anomalies that needs further research.

Matched MeSH terms: Fatal Outcome

Fulltext Plasmodium knowlesi malaria in humans is widely distributed and potentially life threatening

Cox-Singh J, Davis TM, Lee KS, Shamsul SS, Matusop A, Ratnam S, et al.

Clin Infect Dis, 2008 Jan 15;46(2):165-71.

PMID: 18171245 DOI: 10.1086/524888

BACKGROUND: Until recently, Plasmodium knowlesi malaria in humans was misdiagnosed as Plasmodium malariae malaria. The objectives of the present study were to determine the geographic distribution of P. knowlesi malaria in the human population in Malaysia and to investigate 4 suspected fatal cases.

METHODS: Sensitive and specific nested polymerase chain reaction was used to identify all Plasmodium species present in (1) blood samples obtained from 960 patients with malaria who were hospitalized in Sarawak, Malaysian Borneo, during 2001-2006; (2) 54 P. malariae archival blood films from 15 districts in Sabah, Malaysian Borneo (during 2003-2005), and 4 districts in Pahang, Peninsular Malaysia (during 2004-2005); and (3) 4 patients whose suspected cause of death was P. knowlesi malaria. For the 4 latter cases, available clinical and laboratory data were reviewed.

RESULTS: P. knowlesi DNA was detected in 266 (27.7%) of 960 of the samples from Sarawak hospitals, 41 (83.7%) of 49 from Sabah, and all 5 from Pahang. Only P. knowlesi DNA was detected in archival blood films from the 4 patients who died. All were hyperparasitemic and developed marked hepatorenal dysfunction.

CONCLUSIONS: Human infection with P. knowlesi, commonly misidentified as the more benign P. malariae, are widely distributed across Malaysian Borneo and extend to Peninsular Malaysia. Because P. knowlesi replicates every 24 h, rapid diagnosis and prompt effective treatment are essential. In the absence of a specific routine diagnostic test for P. knowlesi malaria, we recommend that patients who reside in or have traveled to Southeast Asia and who have received a "P. malariae" hyperparasitemia diagnosis by microscopy receive intensive management as appropriate for severe falciparum malaria.

Matched MeSH terms: Fatal Outcome

Fulltext Human infections with Plasmodium knowlesi--zoonotic malaria

Millar SB, Cox-Singh J

Clin Microbiol Infect, 2015 Jul;21(7):640-8.

PMID: 25843504 DOI: 10.1016/j.cmi.2015.03.017

In 2004 a large focus of Plasmodium knowlesi malaria was reported in the human population in Sarawak, Malaysian Borneo. Plasmodium knowlesi, a parasite of the South-East Asian macaques (Macaca fascicularis and Macaca nemestrina), had entered the human population. Plasmodium knowlesi is transmitted by the leucosphyrus group of Anopheline mosquitoes and transmission is largely zoonotic and restricted to the jungle setting. Humans entering jungle transmission sites are at risk. Since 2004, human cases of P. knowlesi have been continuously reported in local communities and in travellers returning from South East Asia. Plasmodium knowlesi is the most common type of indigenous malaria reported in Malaysia. Infections are most often uncomplicated but at least 10% of patients report with severe malaria and 1-2% of cases have a fatal outcome. Parasitaemia is positively associated with the clinical and laboratory markers of severe malaria. The current literature on P. knowlesi, including epidemiology, natural hosts and vectors, pathogenesis, clinical descriptions, treatment and diagnosis, is reviewed. There are many gaps in our understanding of this disease that are highlighted here with suggestions for further research to inform pre-emptive control measures that would be required to prevent a full emergence of this parasite into the human population.

Matched MeSH terms: Fatal Outcome

Acute bilateral medial medullary infarct with hypoplastic vertebral artery

Tai ML, Katiman E, Rahmat K, Tan CT

Clin Neurol Neurosurg, 2012 Dec;114(10):1365-7.

PMID: 22512947 DOI: 10.1016/j.clineuro.2012.03.031

Matched MeSH terms: Fatal Outcome

Interdigitating dendritic reticulum cell sarcoma: cytologic, histologic and immunocytochemical features

Jayaram G, Mun KS, Elsayed EM, Sangkar JV

Diagn Cytopathol, 2005 Jul;33(1):43-8.

PMID: 15945093

Tumors of dendritic reticulum cells are rare neoplasms that exhibit significant morphologic overlap with other malignancies. Fine-needle aspiration cytologic appearances of this neoplasm are not well understood. A 33-yr-old woman presented with a rapidly growing nodular mass in the right upper cervical region and right-sided ptosis. Fine-needle aspiration cytology of the mass showed dissociated as well as clustered, large, polygonal cells that showed high nuclear-cytoplasmic ratio. Nuclei were round, oval, or irregular in shape. Large and small blastoid forms with prominent nucleoli and chromatin clumping as well as binucleated cells and cells with lobulated nuclei were seen. Numerous mitoses were observed. The tumor cells expressed focal immunocytochemical reactivity to CD45 and CD68, but were negative for CD2, CD3, CD4, CD8, CD20, CD30, CD45RO, epithelial membrane antigen (EMA), cytokeratin, and HMB45. Histologic sections of the biopsy from the growth showed nodal tissue effaced by a tumor composed of large, pleomorphic neoplastic cells with some binucleate and multinucleate forms resembling Reed-Sternberg cells. The intervening stroma contained numerous small lymphocytes. Tumor cells expressed vimentin, S-100 protein, CD68, and MAC387, but were negative for LCA, CD1a, CD3, CD15, CD20, CD21, CD23, CD30, CD35, carcino-embryonic antigen, HMB45, cytokeratin AE1/3, EMA, myeloperoxidase, lysozyme, smooth-muscle actin, and desmin. The combined histologic and immunohistologic features suggested a histiocytic/dendritic reticulum cell neoplasm and a diagnosis of interdigitating dendritic reticulum cell sarcoma was made.

Matched MeSH terms: Fatal Outcome

Metastatic hepatocellular carcinoma presenting as a sphenoid sinus mass and meningeal carcinomatosis

Hashim H, Rahmat K, Abdul Aziz YF, Chandran PA

Ear Nose Throat J, 2014 Jun;93(6):E20-3.

PMID: 24932824

We report the case of a 30-year-old woman who was referred to us for evaluation of a 2-week history of fever, headache, vomiting, bilateral ptosis, and blurred vision. Imaging obtained by the referring institution had identified a sphenoid sinus mass and diffuse meningeal infiltration, which was thought to represent an infective process. We subsequently identified the mass as a metastatic hepatocellular carcinoma (HCC). The patient was placed under palliative care, and she died 1 month later. Metastases to the sphenoid sinus from any primary source are very rare, and they are generally not considered in the radiologic differential diagnosis. HCC is known to metastasize to the lung, lymph nodes, and musculoskeletal system; again, reported cases of metastasis to the sphenoid sinus are rare. Indeed, our review of the English-language literature found only 6 previously reported cases of sinonasal metastasis of a primary HCC. A diagnosis of a sinonasal metastasis is more difficult in a patient who has no previous diagnosis of a primary malignancy. In presenting this case, our aim is to remind readers of this possibility.

Matched MeSH terms: Fatal Outcome

Report of a rare case of carcinosarcoma of the maxillary sinus with sternal metastasis

Cheong JP, Rahayu S, Halim A, Khir A, Noorafidah D

Ear Nose Throat J, 2014 Jun;93(6):E1-4.

PMID: 24932822

Carcinosarcoma is a highly aggressive and infiltrative tumor. A finding of this tumor in a paranasal sinus is exceedingly rare. We describe the case of a 61-year-old man who presented with a mass on the left side of his face. The mass was excised via a total maxillectomy with a modified radical neck dissection. Histologic analysis identified a mixture of carcinomatous and sarcomatous components. Within 1 month of surgery, the patient developed a sternal metastasis, and he died within a short period of time. The aggressive nature of this tumor and its metastases demand early diagnosis and prompt treatment.

Matched MeSH terms: Fatal Outcome

Recurrence of a nasopharyngeal carcinoma manifesting as a cerebellopontine angle mass

Kong MH, Jeevanan J, Jegan T

Ear Nose Throat J, 2013 Dec;92(12):E11-3.

PMID: 24366707

As many as 31% of patients with nasopharyngeal carcinoma present with intracranial extension. Despite this high percentage, extension to the cerebellopontine angle is rare. The mechanism of tumor spread to the cerebellopontine angle is not completely understood. The most likely mechanism is direct extension to the skull base with involvement of the petrous apex and further extension posteriorly via the medial tentorial edge. We report the case of a 46-year-old woman with nasopharyngeal carcinoma who had been treated initially with chemoradiation and subsequently with stereotactic radiosurgery for residual tumor. One year later, she presented with an intracranial recurrence of the nasopharyngeal carcinoma in the cerebellopontine angle; the recurrence mimicked a benign tumor on magnetic resonance imaging. The tumor was ultimately diagnosed as an undifferentiated carcinoma of nasopharyngeal origin. She was treated with palliative chemotherapy.

Matched MeSH terms: Fatal Outcome

Displaying publications 21 - 40 of 214 in total